Results 51 to 60 of about 58,461 (159)
Harry Pachajoa,1,2 Lina Perafan,1,3 Isabella Ramos,1,4 Álvaro J Escobar4 1Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Faculty of Health Sciences, Universidad Icesi, Cali, Colombia; 2Department of ...
Pachajoa H +3 more
doaj
A severely growth-retarded female newborn is described, who died a few hours after birth. About half of the clones and metaphases from an amniotic fluid cell culture (set up at the 3th week of gestation) and only 1/27 of the metaphases from a blood lymphocyte culture contained an additional No. 22 chromosome. Abnormal findings in the patient included a
openaire +3 more sources
Background: Approximately 15% of all clinically recognized pregnancies end in spontaneous abortions. Chromosomal disorders are responsible for 50% of the spontaneous abortions. Most commonly it occurs in the first trimester of pregnancy.
Shahin Kazi, Harsha A Keche, Kotwaliwale
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Female carriers of balanced translocations involving an X chromosome and an autosome offer genetic counselling challenges. This is in view of the number of possible meiotic outcomes, but also due to the impact of X chromosome-localised genes that are no ...
Karen L. Sheath +5 more
doaj
Chayanid Kunanukulwatana, Fuanglada Tongprasert, Suchaya Luewan, Theera Tongsong Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, ThailandCorrespondence: Fuanglada Tongprasert, Department of Obstetrics and ...
Kunanukulwatana C +3 more
doaj
Down syndrome (DS), stemming from the triplication of human chromosome 21, results in intellectual disability, with early mid-life onset of Alzheimer’s disease (AD) pathology.
Melissa J. Alldred +8 more
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Citation: 'trisomy' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.11321 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Bo Peng, James A. Stadler
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Justificación y objetivos: En Costa Rica, el diagnóstico de anomalías cromosómicas fetales se realiza solo mediante el análisis citogenético convencional de cromosomas obtenidos de cultivos celulares.
Wendy Malespín-Bendaña +2 more
doaj
The efficacy of expanded non‐invasive prenatal testing (NIPT) in a high‐risk twin pregnancies cohort
Introduction Our objective was to evaluate the efficacy of expanded non‐invasive prenatal testing (NIPT) that includes both trisomies and copy number variants (CNVs) in high‐risk twin pregnancies. Material and Methods A prospective, double‐blinded cohort
Meng Meng +9 more
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